Ectrodactyly polydactyly

Ectrodactyly-Polydactyly Syndrome is a rare genetic disorder that affects the development of the hands and feet. This condition is characterized by the presence of both ectrodactyly, the absence of one or more central digits of the hands and/or feet, and polydactyly, which is the presence of extra fingers or toes. The combination of these two features distinguishes this syndrome from other limb malformation syndromes.

Symptoms and Characteristics

The primary symptoms of Ectrodactyly-Polydactyly Syndrome include:

• Ectrodactyly: The split-hand/split-foot malformation (SHFM), also known as lobster claw hand, involves the absence of one or more central digits of the hand or foot, creating a cleft appearance.
• Polydactyly: The presence of extra fingers or toes. This can occur in one or multiple limbs.
• Syndactyly: In some cases, there may also be syndactyly, where two or more fingers or toes are fused together.

These physical manifestations can vary significantly in severity and combination from individual to individual.

Causes

Ectrodactyly-Polydactyly Syndrome is a genetic disorder, which means it is caused by abnormalities in the individual's DNA. It can be inherited in an autosomal dominant pattern, meaning only one copy of the altered gene in each cell is sufficient to cause the disorder. However, cases have been reported where the condition appears without any known family history, suggesting new mutations or complex inheritance patterns.

Diagnosis

Diagnosis of Ectrodactyly-Polydactyly Syndrome is primarily based on physical examination and the characteristic features of the hands and feet. Genetic testing can confirm the diagnosis by identifying mutations in the relevant genes. Prenatal diagnosis is possible through ultrasound, where limb malformations can be detected, and genetic testing can be performed if there is a known family history of the condition.

Treatment

There is no cure for Ectrodactyly-Polydactyly Syndrome, but treatment focuses on improving function and appearance of the hands and feet. This may include:

• Surgical correction: Procedures to reconstruct the hands and/or feet can improve the ability to perform daily tasks and improve appearance.
• Physical and occupational therapy: These therapies can help individuals adapt to their physical limitations and develop skills to manage daily activities.
• Prosthetics and orthotics: In some cases, prosthetic devices or orthotic shoes can be beneficial.

Prognosis

The prognosis for individuals with Ectrodactyly-Polydactyly Syndrome varies depending on the severity of the limb malformations and the presence of other medical issues. With appropriate treatment and support, most individuals can lead active, healthy lives.

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